Hi, our daughter has just been diagnosed with a chiari and syringomyelia. She was born with Crouzon syndrome and also has hydrocephalus but had a V.P shunt put in last September, which is working fine. We have just got rid of her nasalpharyngeal airway due to sleep apnea.

We are devastated for her. I know we are in shock but I sat here last night crying thinking she is going to die.

Her craniofacial surgeon doesn't want to do her mid face advancement until she is much more stable.

The syrinx is huge and goes most of the way down her spinal cord. We live in the U.K and have a great neurosurgeon. We need to go back in 3 months as the problem is she has not had an MRI before only CAT scans so they are not sure if it is progressive or not as they have nothing to compare to.
Any help or support would be great Will there be thing's she cannot do now? Are there a list of symtpoms that she is getting worse that we should look for? How do we cope as a family without falling apart? How do I explain to our other children who are 16, 14 and 5?
TIA
Iraina x

Hi and welcome. I am very sorry for the reason you are here, but you are in the right place. With crouzan you have been dealing with a lot already, and I'm sure this was another blow. But you have been through so much, and you will make it through this too!

I would report any new symptoms to the neurologist or neurosurgeon. Most of the time symptoms progress slowly. An MRI should definitely be done. Have they discussed doing a Chiari decompression? Typically they want to ensure the hydro is under control, by making sure there is a functioning shunt, as that can cause a syrinx to enlarge and a Chiari to worsen. Then they usually recomend a Chiari decompression surgery which hopefully will treat the syrinx. I am not sure if the other deformities will result in a different treatment plan, but if you don't feel your nsg is giving you good information then I would ask for a second opinion.

There is another mom who just posted a few days ago with Warfarin syndrome, which is another craniofacial syndrome. You might want to write to her.